Table 1 Some recent breakthroughs in atrial fibrillation genetics
Gene or locus | Mechanism | Methods | References |
|---|---|---|---|
4q25 (PITX2) | Protein is involved in embryogenic cardiomyocyte development | Genome-wide association | |
6q14-16 | Unknown | Linkage | [31] |
10q22-24 | Unknown | Linkage | [16] |
ACE | Mutation induces atrial fibrosis, resulting in conduction heterogeneity | Candidate gene | [44] |
ANP | A frameshift mutation shortens APD | Candidate gene | [45] |
Connexin 40 (GJA5) | Mutation of a gap-junction protein impairs electrical coupling, resulting in atrial conduction heterogeneity | Candidate gene | [41] |
KCNE2 | A gain-of-function mutation increases K+ current density, leading to shortening of APD and thus increasing reentry | Linkage | [35] |
KCNH2 | A gain-of-function mutation increases K+ current density, leading to shortening of APD and thus increasing reentry | Linkage | [32] |
KCNJ2 | A gain-of-function mutation increases K+ current density, leading to shortening of APD and thus increasing reentry | Linkage | [19] |
KCNQ1 | A gain-of-function mutation increases K+ current density, leading to shortening of APD and thus increasing reentry | Linkage | [18] |
NPC | Mutation of a nuclear envelope protein affects transcription of vital proteins | Linkage and fine mapping | [40] |
SCN5A | A mutation in a Na+ channel gene gives decreased sodium current and shorter wavelength and thus more stable AF | Candidate gene | [39] |